Sentence examples for mutations and risk from inspiring English sources

Our objective was to design a genotyping platform that would allow rapid genetic characterization of samples in the context of genetic mutations and risk factors associated with common neurodegenerative diseases.

Using mortality data from the relatives of 5,287 genotyped participants, of whom 120 carried a BRCA Ashkenazi Jewish founder mutation, in a community-based study of the Ashkenazi Jewish population in the Washington D.C area, we examined the association between the three Ashkenazi BRCA founder mutations and risk of overall and non-cancer mortality.

Finally, many mutations and risk factors associated with AD may not relate to Aβ metabolism.

I also examined potential associations between hereditary Fanconi anemia gene mutations and risk of hematologic cancers.

Following these research methods, both causative mutations and risk gene variants have been studied.

Pathogenic mutations and risk variants in LRRK2 (leucine-rich repeat kinase 2) represent the most common genetic cause of familial and sporadic PD (Parkinson's disease).

A number of other studies have investigated the penetrance of these mutations, and risks have been found to vary by birth cohort, mutation position in the gene, ascertainment criteria and population studied [ 1- 13].

The subjects were similar in most respects, with the exception of BRCA1/2 germline mutation and risk reduction therapy status.

103, 104 Knowledge of one's mutation and risk status may also provide individuals with a sense of control and optimism.

22, 27 Hence, the offspring of an affected individual have a 50% probability of inheriting a mutation and risk for HCM.

The association between being carrier of the CHEK2 *1100delC mutation and risk of developing CBC was not statistically significant (RR=1.7; 95% CI=0.6 5.1) (Table 2).